Deficiency of UTP-hexose-1-phosphate uridylyltransferase

Common Name(s)

Deficiency of UTP-hexose-1-phosphate uridylyltransferase

Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by {9:Bosch, 2006}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Deficiency of UTP-hexose-1-phosphate uridylyltransferase" for support, advocacy or research.

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pregnancy Chances in Classic Galactosemia
 

Status: Recruiting

Condition Summary: Galactosemias; Primary Ovarian Insufficiency

 

Last Updated: 17 Mar 2014

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